RAB3 GTPase activating protein subunit 1 (catalytic), isoform CRA_b [H - Protein

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Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family. [Int J Dev Neurosci. 2023]
Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family.
Ullah W, Ilyas M, Tariq M, Imdad M, Ullah I, Efthymiou S, Faheem M, Abbas M, SYNAPS Study Group, Aamir M, et al. Int J Dev Neurosci. 2023 Jun; 83(4):368-373. Epub 2023 Apr 25.
Proteasomal degradation of p130 facilitate cell cycle deregulation and impairment of cellular differentiation in high-risk Human Papillomavirus 16 and 18 E7 transfected cells. [Mol Biol Rep. 2021]
Proteasomal degradation of p130 facilitate cell cycle deregulation and impairment of cellular differentiation in high-risk Human Papillomavirus 16 and 18 E7 transfected cells.
Gandhi S, Nor Rashid N, Mohamad Razif MF, Othman S. Mol Biol Rep. 2021 Jun; 48(6):5121-5133. Epub 2021 Jun 24.
Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report. [BMC Neurol. 2021]
Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report.
Khalesi R, Razmara E, Asgaritarghi G, Tavasoli AR, Riazalhosseini Y, Auld D, Garshasbi M. BMC Neurol. 2021 Apr 28; 21(1):180. Epub 2021 Apr 28.

RefSeq genomic sequence
See the genomic reference sequence for the RAB3GAP1 gene (NG_016972.2).
RefSeq protein isoforms
See 8 reference sequence protein isoforms for the RAB3GAP1 gene.

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RAB3 GTPase activating protein subunit 1 (catalytic), isoform CRA_d [Homo sapien...
RAB3 GTPase activating protein subunit 1 (catalytic), isoform CRA_d [Homo sapiens]
gi|119632046|gb|EAX11641.1||gnl|WGS |hCP1794066

Protein
Chromosome neighbors for GEO Profiles (Select 77974123) (20)
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Alzheimer's disease: neurofibrillary tangles
Alzheimer's disease: neurofibrillary tangles
Accession: GDS2795

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Related DataSets for GEO Profiles (Select 41000959) (1)
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Protein